Recombinant Human Protein artemis (DCLRE1C), partial

1. Data suggest that stimulation of Artemis nuclease/DCLRE1C activity by XRCC4-DNA ligase IV hetero-complex and efficiency of blunt-end ligation are determined by structural configurations at the DNA ends. (XRCC4 = X-ray repair cross complementing 4) PMID: 28696258
2. An N-terminal fragment comprising the catalytic domain can interact both with itself and with a C-terminal fragment. Amino acid exchanges N456A+S457A+E458Q in the C terminus of full-length SCIDA resulted in unmasking of the N terminus and in increased SCIDA activity in cellular V(D)J recombination assays. PMID: 28082683
3. Data demonstrate that DCLRE1C mutations can cause a phenotype presenting as only antibody deficiency. PMID: 26476407
4. DCLRE1C and NCF1 mutations have been found by whole-genome sequencing to cause primary immunodeficiency in unrelated patients. PMID: 25981738
5. the nature and location of mutations correlate with the clinical phenotype of severe combined immunodeficiency PMID: 25917813
6. uncovered a nuclease, Artemis, as a PTIP-binding protein PMID: 25512557
7. the 5'-exonuclease is intrinsic to ARTEMIS, making it relevant to the role of ARTEMIS in nonhomologous DNA end joining PMID: 24500713
8. DNA ligase IV and Artemis act cooperatively to promote nonhomologous end-joining PMID: 23967291
9. 2 siblings are described with combined immunodeficiency (CID) and immunodysregulation caused by compound heterozygous Artemis mutations. PMID: 24230999
10. Artemis levels significantly influence radiation toxicity in human cells PMID: 22713703
11. Our findings indicate a novel function of Artemis as a molecular switch that converts stalled replication forks harboring single-stranded gap DNA lesions into double-strand breaks, thereby activating the ATM signaling pathway PMID: 23465063
12. Structural basis of DNA ligase IV-Artemis interaction in nonhomologous end-joining. PMID: 23219551
13. these results suggest that Artemis functions as a positive regulator of AMPK signaling by stabilizing the LKB1-AMPK complex. PMID: 23044421
14. study identified a new SCID mutation in a consanguineous Israeli Arab family; sequencing identified an 8 bp insertion in exon 14 (1306ins8) of DCLRE1C in all affected patients; this causes an alteration in amino acid 330 of the protein from cysteine to a stop codon (p.C330X) PMID: 22527898
15. Results show that during S-phase Artemis but not ATM is dispensable for homologous recombination of radiation-induced double-strand breaks. PMID: 22730303
16. Regulation of p27 by Artemis and DDB2 is important for cell cycle progression in normally proliferating cells. PMID: 22134138
17. Point mutations in Artemis that disrupt its interaction with Ligase IV or DNA-PKcs reduce V(D)J recombination. PMID: 22529269
18. The dominant negative mutant Artemis fragment (D37N-413aa) enhanced tumor cell radiosensitivity through blocking activity of endogenous Artemis and DNA repair. PMID: 21641068
19. antisense oligonucleotide (AON) covering the intronic mutation restored WT Artemis transcript levels and non-homologous end-joining pathway activity in the patient fibroblasts PMID: 21390052
20. analysis of differences in sensitivity to DNA-damaging Agents between XRCC4- and Artemis-deficient human cells PMID: 21785230
21. Artemis is required for the repair of DNA double strand breaks that arise endogenously or following oxidative stress. PMID: 21596788
22. Restoration of chemo/radioresistance by wild-type, but not D165N Artemis suggests that the lack of endonucleolytic trimming of DNA ends is the principal cause of sensitivity to double-strand cleaving agents in Artemis-deficient cells. PMID: 21531702
23. Studies indicate that codon-based models of gene evolution yielded statistical support for the recurrent positive selection of five NHEJ genes during primate evolution: XRCC4, NBS1, Artemis, POLlambda, and CtIP. PMID: 20975951
24. Functional analyses on patients' fibroblasts demonstrated that the corresponding alleles carry null mutations of the DCLRE1C gene. PMID: 19953608
25. Plays role in the 3'-processing reaction and protection of the ends of viral DNA (HIV-1) after reverse transcription. Involved in multiple steps including integration and pre-integration steps during retroviral replication. PMID: 20003485
26. DNA-PKcs regulates Artemis by both phosphorylation and complex formation to permit enzymatic activities that are critical for the hairpin-opening step of V(D)J recombination and for the 5' and 3' overhang processing in nonhomologous DNA end joining. PMID: 11955432
27. A nonsense founder mutation discovered in exon 8 of Artemis results in the truncation of the deduced protein product and indicates that the SNM1-like gene (Artemis) is the gene responsible for SCID in Athabascan-speaking Native Americans. PMID: 12055248
28. deletions and missense mutations in the Artemis gene can cause radiosensitive-SCID with defective coding joint formation and lead to an early and complete B-cell differentiation block PMID: 12406895
29. Artemis has a role in T and B lymphocyte immunodeficiency and in predisposition to lymphoma through the NHEJ pathway of DNA repair PMID: 12569164
30. the genomic exon 3 deletion is unique to Japan and may be considered as a founder haplotype. PMID: 12592555
31. Properties of the Artemis proteins are integrated into the processes of V(D)J recombination and non-homologous end-joining factors. PMID: 14628082
32. Artemis uses one or two Zn(II) ions to exert its catalytic activity, like bacterial class B beta-Lact enzymes hydrolyzing beta-lactam compounds. PMID: 14744996
33. The hairpin-opening activity of ARTEMIS and/or its overhang endonucleolytic activity are necessary but its exonuclease activity is not sufficient for the process of V(D)J recombination. PMID: 15071507
34. Data show that Artemis interacts with cell cycle checkpoint proteins and is a phosphorylation target of the checkpoint kinases ATM or ATR after exposure of cells to IR or UV irradiation, respectively. PMID: 15456891
35. Atemis is an effector of dna repair that can be phosphorylated by ataxia-telangiectasia-mutated kinase (ATM) and possibly by DNA-dependent protein kinase catalytic subunit and ATM-and Rad3-related kinase depending on the type of DNA damage. PMID: 15468306
36. ATM, Artemis, and proteins locating to gamma-H2AX foci have roles in double-strand break rejoining PMID: 15574327
37. our finding places Artemis at the signaling crossroads downstream of DNA-PKcs and ATM in IR-induced DSB repair. PMID: 15723659
38. report on a first patient with clinical and immunologic features of OS caused by hypomorphic ARTEMIS mutations. Sequencing of the ARTEMIS gene revealed a compound heterozygosity in this nonhomologous end-joining (NHEJ) factor PMID: 15731174
39. Artemis:DNA-PKcs nuclease may be important in removing secondary structures that hinder processing of DNA ends during nonhomologous DNA end joining . PMID: 15936993
40. The uncharacterized C-terminal domain of Artemis has important regulatory roles; results lead to a model for how DNA-PKcs activates Artemis by phosphorylation PMID: 16093244
41. characterization of six DNA-PK phosphorylation sites on Artemis whose phosphorylation shows dependence on its association with DNA-PK catalytic subunit and is induced by double-stranded DNA damage PMID: 16600297
42. Ku-mediated assembly of DNA-PK on DNA ends is responsible for a dissociation of the DNA-PKcs.Artemis complex. PMID: 16857680
43. DNA-PK autophosphorylation regulates Artemis access to DNA ends, providing insight into the mechanism of Artemis mediated DNA end processing. PMID: 16874298
44. Artemis efficiently trims long 3'-phosphoglycate-terminated overhangs induced in DNA by radiation and other radical-based toxins. PMID: 17121861
45. analyzed the phenotype of cells derived from SCID patients with different mutations in the Artemis gene PMID: 17169382
46. ATM regulates G(2)/M checkpoint recovery through inhibitory phosphorylations of Artemis that occur soon after DNA damage, thus setting a molecular switch that, hours later upon completion of DNA repair, allows activation of the Cdk1-cyclin B complex. PMID: 17242184
47. There is some sequence-dependent variation in the efficiency and position of hairpin opening by Artemis:DNA-PKcs; providing more clarity on the extent to which the hairpin opening position contributes to junctional diversity in V(D)J recombination. PMID: 17932067
48. The Artemis C terminus is essential for V(D)J recombination at the normal Artemis expression level. PMID: 18034425
49. H254 plays a key role in the Artemis function, as it is critical for its full activity in vitro. PMID: 19022407
50. Results link Artemis to the predominant nonhomologous end-joining pathway during immunoglobulin class switch recombination. PMID: 19075292

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HGNC: 17642

OMIM: 602450

KEGG: hsa:64421

STRING: 9606.ENSP00000367527

UniGene: Hs.655932